不完全型P450 17α酶缺乏症六例报道及分析

目的 探讨不完全型P45017α酶（17α羟化爵每／17,20裂解酶）缺乏症（17OHD）的临床特征、鉴别诊断和处理方法。方法 回顾性分析北京协和医院6例不完全型17OHD的临床特征,并通过文献复习讨论该病的发病机制和典型的临床特征。结果 6例中4例为46,XX不完全型17OHD患者,其临床特征包括女性表型、不同程度的乳房发育、阴毛少、月经稀发或继发闭经、反复发作的卵巢囊肿、性腺功能低下伴持续性血清孕酮和（或）17α羟孕酮水平升高、合并或不合并低钾性高血压;另2例为46,XY不完全型17OHD患者,伴有不同程度的外生殖器性别不清和低钾性高血压。结论 不完全型17OHD是一种极为罕见的先天性甾体合成酶缺乏,临床上出现月经异常、性发育幼稚、反复发作的卵巢囊肿或外生殖器性别不清时应考虑此病。

Incomplete P450 17 alpha enzyme deficiency: report of six cases

OBJECTIVES: To summarize the characteristics, differential diagnosis and management of incomplete 17 alpha-hydroxylase/17, 20-lyase deficiency (17 OHD) of Chinese patients. METHODS: Six cases of incomplete 17 OHD from Peking Union Medical College Hospital were studied retrospectively through analyzing their clinical data, and the molecular pathogenic mechanism was discussed after literature review. RESULTS: Four cases of 46, XX incomplete 17 OHD were reported. The clinical characteristics included female phenotype, various degrees of breast development and absent or sparse axillary/pubic hair, oligomenorrhea or secondary amenorrhea, recurrent luteinized ovarian cysts, hypogonadism with persistent hyperprogesteronemia or high serum 17 alpha-hydroxyprogesterone level, with or without hypokalemic hypertension. There were also 2 cases of 46, XY incomplete 17 OHD, in which ambiguous genitalia were present besides hypokalemic hypertension. CONCLUSIONS: Incomplete 17 OHD is a very rare form of congenital enzymatic deficiencies of steroid synthesis, which should be included in the differential diagnosis when there are menstrual disorders, sexual infantilism, recurrent ovarian cysts or ambiguous genitalia. Under such circumstances, hyperprogesteronemia offers a valuable clue for further investigation.